Canonical Allele Identifier: CA488181327
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs762425264
gnomAD v2: 14-101349463-G-A
gnomAD v4: 14-100883126-G-A
MyVariant Identifiers: chr14:g.101349463G>A (hg19) chr14:g.100883126G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883126G>A , CM000676.2:g.100883126G>A GRCh38
NC_000014.8:g.101349463G>A , CM000676.1:g.101349463G>A GRCh37
NC_000014.7:g.100419216G>A NCBI36
NG_045001.1:g.6722C>T
NG_045000.5:g.51858G>A
NG_045000.6:g.51858G>A
NG_045001.2:g.25597C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000649591.1:c.1663C>T MANE Select ENSP00000497482.1:p.Leu555=
ENST00000534062.1:c.1663C>T ENSP00000435342.1:p.Leu555=
NM_001134888.2:c.1663C>T NP_001128360.1:p.Leu555=
NM_001134888.3:c.1663C>T MANE Select NP_001128360.1:p.Leu555=
Search 100 bp 5'
Search 100 bp 3'